Retinal Histopathology in Eyes from a Patient with Stargardt disease caused by Compound Heterozygous ABCA4 Mutations
Author:
Affiliation:
1. Cole Eye Institute, Department of Ophthalmology, Cleveland Clinic Lerner College of Medicine, Cleveland, OH, USA, and
2. Chicago Lighthouse for People Who Are Blind or Visually Impaired, Chicago, IL, USA
Publisher
Informa UK Limited
Subject
Genetics(clinical),Ophthalmology,Pediatrics, Perinatology, and Child Health
Link
https://www.tandfonline.com/doi/pdf/10.3109/13816810.2014.958861
Reference55 articles.
1. Microarray-based mutation analysis of the ABCA4 (ABCR) gene in autosomal recessive cone–rod dystrophy and retinitis pigmentosa
2. Retinal Phenotypes in Patients Homozygous for the G1961E Mutation in theABCA4Gene
3. Phenotypic Subtypes of Stargardt Macular Dystrophy–Fundus Flavimaculatus
4. Phenotype/genotype correlation in a case series of Stargardt’s patients identifies novel mutations in the ABCA4 gene
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